CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8

Question 1

What is  CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8?

Accepted Answer

rare
autosomal recessive
mutation in the CLN8 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CLN8-Krankheit

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 600143

Question 4

Which enzymes are involved?

Accepted Answer

Protein CLN8

Disease	CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8
Synonym	CLN8
OMIM	600143 OMIM = Online Mendelian Inheritance of Men
Orphanet	228354
Protein (UniProt)	Protein CLN8
Gene locus	8p23.3
ICD	E75.4
Summary	rare autosomal recessive mutation in the CLN8 gene
Laboratory findings
Symptoms	abnormal movement ataxia behavior, abnormal or bizarre, confusion blindness, visual loss, visual impairment cerebellar atrophy or hypoplasia cerebral atrophy developmental regression dystonia EEG abnormalities [-] Electron microscopy [-] epilepsy hypertonia, spasticity MRI, brain, abnormalities [-] MRI, brain, white matter abnormalities [-] myoclonus onset, childhood optic atrophy retinal atrophy retinopathy seizures speech development, delayed, abnormal VEP (visual evoked potentials), abnormal white matter changes, abnormalities